A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

Osborne, Lucy R., Li, Martin, Pober, Barbara, Chitayat, David, Bodurtha, Joann, Mandel, Ariane, Costa, Teresa, Grebe, Theresa +3 more·2001·Nature Genetics

Cited by (345)

Items 201–300 of 345

  1. Williams-Beuren Syndrome
    Stephen W. Scherer, Lucy R. Osborne · 2007 · Humana Press eBooks
  2. Characterization of Inversions as a Type of Structural Chromosome Aberration
    B. Muss, Gesa Schwanitz · 2007 · International Journal of Human Genetics
  3. Haplotype-resolved inversion landscape reveals hotspots of mutational recurrence associated with genomic disorders
    David Porubskỳ, Wolfram Höps, Hufsah Ashraf, PingHsun Hsieh, Bernardo Rodríguez–Martín, Feyza Yilmaz, Jana Ebler, Pille Hallast, Flavia Angela Maria Maggiolini, William T. Harvey et al. · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
  4. Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins
    Lisanne Vervoort, Wolfram Demaerel, Laura Yissel Rengifo, Adrian Odrzywolski, Elfi Vergaelen, Matthew S. Hestand, Jeroen Breckpot, Koenraad Devriendt, Ann Swillen, Donna M. McDonald‐McGinn et al. · 2019 · Human Molecular Genetics
  5. Differences and Similarities in Adaptive Functioning between Children with Autism Spectrum Disorder and Williams–Beuren Syndrome: A Longitudinal Study
    Paolo Alfieri, Francesco Scibelli, Federica Alice Maria Montanaro, Maria Cristina Digilio, Lucilla Ravà, Giovanni Valeri, Stefano Vicari · 2022 · Genes
  6. New Genes on Human Chromosome 7: Bioinformation Analysis of a Cluster of Genes from the POLR2J Family
    Dmitry G. Shpakovski, Elena K. Shematorova, George V. Shpakovski · 2004 · Russian Journal of Bioorganic Chemistry
  7. FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics
    Bert B A De Vries, L-A Severijnen, A Jacobs, R Olmer, D J J Halley, B A Oostra, R Willemsen · 2003 · Journal of Medical Genetics
  8. Analysis of segmental duplications reveals a distinct pattern of continuation-of-synteny between human and mouse genomes
    Michael R. Mehan, Maricel Almonte, Erin Slaten, Nelson B. Freimer, P. Nagesh Rao, Roel A. Ophoff · 2006 · Human Genetics
  9. High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis
    R. Ruf, J. Berkman, M. T. Wolf, P. Nurnberg, M. Gattas, Eva-Maria Ruf, V. Hyland, J. Kromberg, I. Glass, J. Macmillan et al. · 2003 · Journal of Medical Genetics · Retracted
  10. Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification
    Morten Hillmer, Anna Summerer, Victor‐Felix Mautner, Josef Högel, D.N. Cooper, Hildegard Kehrer‐Sawatzki · 2017 · Human Mutation
  11. High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing
    Feyza Yilmaz, Gurusamy Umamaheswaran, Trenell J. Mosley, Pille Hallast, Kwondo Kim, Yulia Mostovoy, Ryan H. Purcell, Tamim H. Shaikh, Michael E. Zwick, Pui–Yan Kwok et al. · 2023 · Genome Medicine
  12. Genome-wide association tests of inversions with application to psoriasis
    Jianzhong Ma, Momiao Xiong, Ming You, Guillermina Lozano, Christopher Ian Amos · 2014 · Human Genetics
  13. A New Next-Generation Sequencing-Based Assay for Concurrent Preimplantation Genetic Diagnosis of Charcot-Marie-Tooth Disease Type 1A and Aneuploidy Screening
    Baoheng Gui, Pu Yang, Zhongyuan Yao, Yanping Li, Donge Liu, Nenghui Liu, Sijia Lü, Desheng Liang, Lingqian Wu · 2016 · Journal of genetics and genomics/Journal of Genetics and Genomics
  14. Deletions and Other Structural Abnormalities of the Autosomes
    Nancy Bettina Spinner, Laura Kathleen Conlin, Surabhi Mulchandani, Beverly S. Emanuel · 2013 · Elsevier eBooks
  15. Accommodating Chromosome Inversions in Linkage Analysis
    Gary K. Chen, Erin Slaten, Roel A. Ophoff, Kenneth L. Lange · 2006 · The American Journal of Human Genetics
  16. Interphase fluorescent in situ hybridization detection of the 7q11.23 chromosomal inversion in a clinical laboratory: automated versus manual scoring
    Gwenaël Nadeau, Charles Coutton, Florence Amblard, Gabrielle Michalowicz, Sylvie Frasca, Arnold Fertin, Françoise Devillard, Véronique Satre, Yves Usson, Pierre‐Simon Jouk · 2012 · Clinical Chemistry and Laboratory Medicine (CCLM)
  17. Inversions on human chromosomes
    Klara Kosuthova, Roman Šolc · 2022 · American Journal of Medical Genetics Part A
  18. Expression of the transcription factor, TFII-I, during post-implantation mouse embryonic development
    Iwona J. Fijałkowska, Deva Sharma, Carol J. Bult, Sonye Karen Danoff · 2010 · BMC Research Notes
  19. FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5�Mb included in the minimal region deleted in 1p36 deletion syndrome
    Idoya Lahortiga, Iria V�zquez, Elena Belloni, Jos� P. Rom�n, Patrizia Gasparini, Francisco Javier Novo, Isabel Zudaire, Pier Giuseppe Pelicci, Jes�s M. Hern�ndez, Marı́a José Calasanz et al. · 2005 · Human Genetics
  20. Gene editing of NCF1 loci is associated with homologous recombination and chromosomal rearrangements
    Federica Raimondi, Kah Mun Siow, Dominik Wrona, Carla Fuster‐García, Oleksandr Pastukhov, Michael Schmitz, Katja Bargsten, Lucas Kissling, Daan C. Swarts, Geoffroy Andrieux et al. · 2024 · Communications Biology
  21. Covert processing of facial expressions by people with Williams syndrome
    Yonata Levy, Hadas Pluber, Shlomo Bentin A · 2009 · Cortex
  22. Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus
    Annalisa Paparella, Alberto L’Abbate, Donato Palmisano, Gerardina Chirico, David Porubskỳ, Claudia Rita Catacchio, Mario Ventura, Evan E. Eichler, Flavia Angela Maria Maggiolini, Francesca Antonacci · 2023 · International Journal of Molecular Sciences
  23. Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment
    Jason W. Adams, Annabelle Vinokur, Janaína Sena de Souza, Charles Austria, Bruno Siegel Guerra, Roberto H. Herai, Karl J. Wahlin, Alysson Renato Muotri · 2024 · Cell Reports
  24. Chromosome 7 aberrations in a young girl with myelodysplasia and hepatoblastoma: an unusual association
    Katherine R. Neas, Greg B. Peters, Julianne Jackson, Mrinal Tembe, Zhan He Wu, Jesper Brohede, Garry N. Hannan, Felicity Collins · 2005 · Clinical Dysmorphology
  25. Direct duplication 12p11.21–p13.31 mediated by segmental duplications: a new recurrent rearrangement?
    Manuela De Gregori, Tiziano Pramparo, Luigi Memo, Giorgio Gimelli, Jole Messa, Mariano Rocchi, Maria Grazia Patricelli, Roberto Ciccone, Roberto Giorda, Orsetta Zuffardi · 2005 · Human Genetics
  26. De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies
    Anne Gregor, Mandy Krumbiegel, Cornelia S. Kraus, André Reis, Christiane Zweier · 2012 · American Journal of Medical Genetics Part A
  27. RETRACTED: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements
    Wolfram Demaerel, Matthew S. Hestand, Elfi Vergaelen, Ann Swillen, Marcos López‐Sánchez, Luis Alberto Pérez Jurado, Donna M. McDonald‐McGinn, Elaine H. Zackai, Beverly S. Emanuel, Bernice E. Morrow et al. · 2017 · The American Journal of Human Genetics · Retracted
  28. High rates of de novo 15q11q13 inversions in human spermatozoa
    Òscar Molina, Ester Antón, Francesca Vidal, Joan Blanco · 2012 · Molecular Cytogenetics
  29. Épidémiologie, étiologie et génétique des cardiopathies congénitales
    Elisabeth Robert‐Gnansia, Christine Francannet, A Bozio, Patrice Bouvagnet · 2004 · EMC - Cardiologie-Angéiologie
  30. SRinversion: a tool for detecting short inversions by splitting and re-aligning poorly mapped and unmapped sequencing reads
    Ruoyan Chen, YL Lau, Yan Zhang, Wanling Yang · 2016 · Bioinformatics
  31. Comparison of Adaptive Functioning in Children with Williams Beuren Syndrome and Autism Spectrum Disorder: A Cross‐Syndrome Study
    Paolo Alfieri, Francesco Scibelli, Maria Cristina Digilio, Roberta Lucia Novello, Cristina Caciolo, Giovanni Valeri, Stefano Vicari · 2020 · Autism Research
  32. Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe
    Colleen A. Morris, Carolyn Β. Mervis, Lucy R. Osborne · 2011 · Molecular Cytogenetics
  33. Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7
    Grit Ebert, Anne Steininger, Robert Weißmann, Vivien Boldt, Allan Lind-Thomsen, Jana Grune, Stefan Badelt, Melanie Heßler, Matthias Peiser, Manuel Hitzler et al. · 2014 · BMC Genomics
  34. How biological elements interact with language The biolinguistic inquiry
    Caimei Yang · 2019 · Frontiers in bioscience
  35. Pico-inplace-inversions between human and chimpanzee
    Minmei Hou, Ping Yao, Angela Antonou, Mitrick A. Johns · 2011 · Bioinformatics
  36. De novo interstitial tandem duplication of chromosome 20p12.1p13
    Thomy J.L. de Ravel, Joris Robert Vermeesch, J P Fryns · 2002 · American Journal of Medical Genetics Part A
  37. W illiams Syndrome
    Colleen A. Morris · 2005
  38. Ecological basis and genetic architecture of crypsis polymorphism in the desert clicker grasshopper (Ligurotettix coquilletti)
    T. O'Connor, Marissa C. Sandoval, Jia-Rui Wang, J. C. Hans, Risa Takenaka, M. Child, Noah K. Whiteman · 2021 · bioRxiv
  39. InvertypeR: Bayesian inversion genotyping with Strand-seq data
    Vincent C. T. Hanlon, Carl-Adam Mattsson, Diana C.J. Spierings, Victor Guryev, Peter M. Lansdorp · 2021 · BMC Genomics
  40. Structural Chromosome Rearrangements
    Kathleen A. Kaiser‐Rogers, Kathleen W. Rao · 2012 · Springer eBooks
  41. The Human Genome and Its Upcoming Dynamics
    Matthias Platzer · 2006 · KARGER eBooks
  42. The emerging role of structural variations in common disorders: initial findings and discovery challenges
    Lluı́s Armengol, Raquel Rabionet, Xavier Estivill · 2008 · Cytogenetic and Genome Research
  43. Inversion polymorphism in a complete human genome assembly
    David Porubskỳ, William T. Harvey, Allison N. Rozanski, Jana Ebler, Wolfram Höps, Hufsah Ashraf, Patrick Hasenfeld, Benedict Paten, Ashley D. Sanders, Tobias Marschall et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  44. Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders
    Trenell J. Mosley, H. Richard Johnston, David J. Cutler, Michael E. Zwick, Jennifer G. Mullé · 2021 · BMC Medical Genomics
  45. Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan
    Chung‐Lin Lee, Shan‐Miao Lin, Ming‐Ren Chen, Chih‐Kuang Chuang, Yu-Min Syu, Huei‐Ching Chiu, Ru‐Yi Tu, Yun‐Ting Lo, Ya-Hui Chang, Shuan-Pei Lin et al. · 2022 · Journal of Personalized Medicine
  46. Clinical expression of familial Williams-Beuren syndrome in a Turkish family
    Mesut Parlak, Banu Guzel Nur, Ercan Mıhçı, Erdem Durmaz, Sibel Berker Karaüzüm, Sema Akçurin, İffet Bircan · 2013 · Journal of Pediatric Endocrinology and Metabolism
  47. Genomic rearrangements in the spotlight
    Lucy R. Osborne · 2007 · Nature Genetics
  48. Low copy repeats in the genome: from neglected to respected
    Lisanne Vervoort, Joris Robert Vermeesch · 2023 · Exploration of Medicine
  49. A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications
    Jana Drabova, Marie Trková, Miroslava Hančárová, Drahuše Novotná, Michaela Hejtmankova, Markéta Havlovičová, Zdeněk Sedláček · 2014 · Molecular Cytogenetics
  50. Complex Study of Drosophila Mutants in the agnostic Locus: A Model for Coupling Chromosomal Architecture and Cognitive Functions
    Elena V. Savvateeva-Popova, A. I. Peresleni, L. M. Sharagina, E. V. Tokmacheva, А. В. Медведева, Н. Г. Камышев, А. В. Попов, Philip Ozersky, Elina M. Baricheva, Dmitry A. Karagodin et al. · 2002 · Journal of Evolutionary Biochemistry and Physiology
  51. Molecular genetics of velo-cardio-facial syndrome
    Katrina Prescott, Peter James Scambler · 2005 · Cambridge University Press eBooks
  52. Williams Syndrome
    Colleen A. Morris · 2010
  53. Microdeletion Syndromes
    Anne Michele Slavotinek · 2012 · Encyclopedia of Life Sciences
  54. Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets
    Tugce Bozkurt‐Yozgatli, Ming Yin Lun, Jesse D. Bengtsson, Osman Uğur Sezerman, Ivan Kingyue Chinn, Zeynep Coban‐Akdemir, Claudia M.B. Carvalho · 2025 · European Journal of Human Genetics
  55. Measures of Adaptive Behavior
    Paolo Alfieri, Federica Alice Maria Montanaro, Cristina Caciolo, Francesca Cumbo, Francesco Scibelli, Stefano Vicari · 2023 · Autism and child psychopathology series
  56. No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control
    Judith Frohnauer, Almuth Caliebe, Stefan Gesk, Carl‐Joachim Partsch, Reiner Siebert, Rainer Pankau, Jutta Jenderny · 2010 · Molecular Cytogenetics
  57. Structural variation in the human genome
    Yongshu He, Wen ZHANG, Zhaoqing Yang · 2009 · Hereditas (Beijing)
  58. Aetiology of Congenital Cardiac Disease
    Benoit G. Bruneau, John Burn, Deepak Srivastava · 2009 · Elsevier eBooks
  59. Segmental Duplications
    Andrew J. Sharp, Evan E. Eichler · 2007 · Humana Press eBooks
  60. Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome
    Lisanne Vervoort, Nicolas Dierckxsens, Marta Sousa Santos, Senne Meynants, Erika L. Souche, Ruben Cools, Tracy Heung, Koenraad Devriendt, Hilde Peeters, Donna M. McDonald‐McGinn et al. · 2024 · Genome Research
  61. Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India
    Jhanvi Shah, Debasrija Mondal, Deepika Kumari Jain, Priti Mhatre, Ketan Patel, Anand Iyer, Manoj Pandya, Bhargavi Menghani, Gayatri Dave, Jayesh J. Sheth et al. · 2025 · BMC Medical Genomics
  62. Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders
    Jonathan Lukas Lühmann, Gunnar Schmidt, Bernd Auber, Anke Katharina Bergmann, Oliver Brandau, Anja Louis, Sabine Hentze, Katrin Eisfeld, Brigitte Schlegelberger, Ruediger Klaes et al. · 2023 · American Journal of Medical Genetics Part A
  63. Structure of the NF1 Gene Region and Mechanisms Underlying Gross NF1 Deletions
    Hildegard Kehrer‐Sawatzki · 2008 · KARGER eBooks
  64. Copy number variation in the autism genome
    Lars Feuk · 2008 · Expert Opinion on Medical Diagnostics
  65. The Role of Mutation and Epimutation in the Development of Human Disease
    Ashley G. Rivenbark, William B. Coleman · 2009 · Molecular pathology library
  66. Introduction to Genetics
    William B. Dobyns, Susan L. Christian, Soma Das · 2012 · Elsevier eBooks
  67. Segmental Duplications and Genetic Disease
    Feyza Yilmaz, Tamim H. Shaikh, Beverly S. Emanuel · 2017 · Wiley eBooks
  68. Detecção da microdeleção 7q11.23 por MLPA® e estudo clínico dos pacientes com síndrome de Williams-Beuren
    Rachel Sayuri Honjo · 2012
  69. Genomics and Pediatric Research
    Andrew P. Boright, Juha Kere, Stephen W. Scherer · 2003 · Pediatric Research
  70. Genome and Disease
    Jean‐Nicolas Volff · 2006 · Genome dynamics
  71. Multi-modal investigation of the schizophrenia-associated 3q29 genomic interval reveals global genetic diversity with unique haplotypes and segments that increase the risk for non-allelic homologous recombination
    Feyza Yilmaz, Gurusamy Umamaheswaran, Trenell J. Mosley, Yulia Mostovoy, Tamim H. Shaikh, Michael E. Zwick, Pui–Yan Kwok, Charles Lee, Jennifer Gladys Mulle · 2021 · medRxiv
  72. Inversion Chromosomes
    Orsetta Zuffardi, Roberto Ciccone, Sabrina Giglio, Tiziano Pramparo · 2007 · Humana Press eBooks
  73. AGAPduplicons associate with structural diversity at Chromosome 10q11.22
    Stefania Fornezza, Vincenza Simona Delvecchio, William T. Harvey, Philip C. Dishuck, Evan E. Eichler, Giuliana Giannuzzi · 2024 · Genome Research
  74. Structural variations in the human genome
    Marten Jäger · 2011 · Utrecht University Repository (Utrecht University)
  75. Genome science performed with e-science tools
    Robert Stevens, Hannah Tipney, Chris Wroe, Thomas M. Oinn, Martin Senger, Phillip Lord, Carole Goble, Andy Brass, May Tassabehji · 2004 · Research Explorer (The University of Manchester)
  76. Gross Rearrangements Caused by Long Triplet and Other Repeat Sequences
    Albino Bacolla, Marzena Wojciechowska, Beata Kośmider, Jacquelynn E. Larson, Robert D. Wells · 2006 · Elsevier eBooks
  77. Molekulare Karyotypisierung in der klinischen Anwendung
    Andreas Dufke, O. Riess, M. Bonin · 2008 · Medizinische Genetik
  78. The Importance of Genome Architecture in Mental Retardation
    Heather C. Mefford · 2010 · Monographs in human genetics
  79. Genotyping the factor VIII intron 22 inversion locus using fluorescent in situ hybridization
    Campbell R. Sheen, Margaret McDonald, Peter Myles George, Mark P. Smith, Christine M. Morris · 2011 · Blood Cells Molecules and Diseases
  80. The Human Genome
    William B. Coleman · 2017 · Elsevier eBooks
  81. Molecular Genetics of Williams–Beuren Syndrome
    Giuseppe Merla, Lucia Micale, Carmela Fusco, Maria Nicla Loviglio · 2012 · Encyclopedia of Life Sciences
  82. Segmental duplications and the human genome
    Rhea U. Vallente, Evan E. Eichler · 2005 · Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics
  83. Microdeletions and molecular genetics
    Annick Vogels, JP Fryns · 2011 · Atlas of Genetics and Cytogenetics in Oncology and Haematology
  84. Analysis of Clinical Features of Williams-Beuren Syndrome Referred for Molecular Cytogenetic Study
    Chiou-nan Shiue, Yen‐Yin Chou, Louise Chuang, Shang-chun Tsai, Jing‐Ming Wu, Pao-ling Kuo, Shio-jean Lin · 2015
  85. Genome mapping resolves structural variation within segmental duplications associated with microdeletion/microduplication syndromes
    Yulia Mostovoy, Feyza Yilmaz, Stephen K. Chow, Catherine Chu, Chin Jia Lin, Elizabeth A. Geiger, Naomi J. L. Meeks, Kathryn C. Chatfield, Curtis R. Coughlin, Pui–Yan Kwok et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  86. Microdeletion Syndromes
    Albert Schinzel, Mariluce Riegel, Alessandra Baumer · 2006 · Encyclopedia of Life Sciences
  87. Deletions and Other Structural Abnormalities of the Autosomes
    Laura Kathleen Conlin, Ada J. S. Chan, Beverly S. Emanuel, Nancy Bettina Spinner · 2024 · Elsevier eBooks
  88. Distinct mechanisms of CNV formation at the human 15q13.3 locus
    Wolfram Höps, David Porubskỳ, DongAhn Yoo, Michelle de Groot, Amber den Ouden, Ronny C. Derks, Kendra Hoekzema, Kornelia Neveling, Alexander Hoischen, Helger G. Yntema et al. · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
  89. Williams-Beuren Syndrome
    Mónica Bayés, Luis Alberto Pérez Jurado · 2003 · Humana Press eBooks
  90. Análise de marcadores moleculares para o diagnóstico da síndrome de Williams-Beuren
    Roberta Lelis Dutra · 2011
  91. Molecular Karyotyping by Array CGH. Linking gene dosage alterations to disease phenotypes.
    Lisenka E.L.M. Vissers · 2007 · Radboud Repository (Radboud University)
  92. Estudo de marcadores polimórficos da região 7q11.23 para o diagnóstico da síndrome de Williams-Beuren
    Ivanete Chaves Sbruzzi · 2006
  93. Impact of Genomewide Structural Variation on Gene Discovery
    Lisenka E.L.M. Vissers, Joris A. Veltman · 2011 · Wiley eBooks
  94. Basic research in paediatrics: Does it exist?
    Manuel Buchwald · 2004 · Paediatrics & Child Health
  95. Correction: Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism
    Nina Bosch, Marta Morell, Immaculada Ponsa, Josep Maria Mercader, Lluı́s Armengol, Xavier Estivill · 2010 · PLoS ONE
  96. Genomic Rearrangements in Autism Spectrum Disorders: Identification of Novel Candidate Genes
    Patrick Malenfant · 2009 · QSpace (Queen's University Library)
  97. Evolució molecular i estudi funcional de gens localitzats a les duplicacions segmentàries de la regió 7q11.23
    Anna Antonell Boixader · 2006 · LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)
  98. A Challenge For Genotype - Phenotype Correlations
    Mayada Tassabehji · 2003 · Human Molecular Genetics
  99. Molekularzytogenetische Analysen zur Bedeutung des Inversionspolymorphismus in der Chromosomenregion 7q11.23 für die Entstehung des Williams-Beuren-Syndroms.
    Judith Frohnauer · 2011 · Multimedialen Archiv und Publikationsserver der Christian-Albrechts-Universität zu Kiel (Christian-Albrechts-Universität zu Kiel)
  100. E´pidémiologie, étiologie et génétique des cardiopathies congénitales
    Elisabeth Robert‐Gnansia, Christine Francannet, A Bozio, Patrice Bouvagnet · 2006 · EMC - Cardiologie